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Article

Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?

European journal of medical genetics - 1 Dec 2012

Faguer Stanislas, Chassaing Nicolas, Bandin Flavio, Prouheze Cathie, Chauveau Dominique, Decramer Stéphane

Abstract excerpt

Mutations of the transcription factor SIX2 have been associated with renal hypodysplasia, renal cysts or vesicoureteric reflux. Here, we aimed at confirming the role and the prevalence of SIX2 mutations in a large cohort of 125 individuals with various congenital abnormalities of kidneys and urin...

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Source

Identifiers

PMID: 22809486
DOI: 10.1016/j.ejmg.2012.06.003

Genes

SIX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22809486-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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